Hyperglycerolemia
MeSH: C538138ORPHA: 408
Overview
genetic disorder
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Hyperglycerolemia, sourced from HPO and Orphanet clinical annotations.
CryptorchidismOsteoporosisIntellectual disabilitySeizureHypotoniaGlobal developmental delayReduced tendon reflexesMetabolic acidosisAbnormal speech patternEEG abnormalityScoliosisMyopathyElevated circulating creatine kinase concentrationHyperlordosisEMG abnormalityShort statureAdrenocortical hypoplasia
Classification & Codes
MeSH Code
C538138Orphanet Code
ORPHA:408Hyperglycerolemia
| MeSH | C538138 |
| Orphanet | ORPHA:408 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO